CDK13 p.Pro611fs
c.1830dup · VCV3342692
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 2 of 14 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.8 | GERP 1.8, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- CDK13
- Protein
- p.Pro611fs
- Coding
- c.1830dup
- MANE Select
- NM_003718
- Type
- Duplication
- Location
- chr7:39988216 (GRCh38)
- Gene constraint
- LOEUF 0.434 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 50.59 · 2 PDB
Similar variants
- CDK13 p.Pro611= Likely benign ★ same residue
- CDK13 p.Ser177fs Pathogenic/Likely pathogenic ★★ same type
- CDK13 p.Pro51_Pro52insGlnLeuLeuGlnPro Uncertain significance ★★ same type
- CDK13 p.Leu87fs Pathogenic ★ same type
- CDK13 p.Ser385fs Pathogenic ★ same type
- CDK13 p.Thr174fs Pathogenic ★ same type
- CDK13 p.Val564Ter Pathogenic ★ same type
- CDK13 c.2354-15885_2781-6387dup Uncertain significance ★ same type
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/cdk13-p-pro611fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown